De novo variants in the PABP domain of PABPC1 lead to developmental delay - Wegler, Meret; Jia, Xiangbin; Alders, Marielle; Bouman, Arjan; Chen, Jia; Duan, Xinyu; Lauzon, Julie L.; Mathijssen, Inge B.; Sticht, Heinrich; Syrbe, Steffen; Tan, Senwei; Guo, Hui; et al. (Genetics in medicine, 2022)
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